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  3. ACY1
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Miscellaneous Metabolic Disorders

Gene: ACY1

Green List (high evidence)
ACY1 (aminoacylase 1)
EnsemblGeneIds (GRCh38): ENSG00000243989
EnsemblGeneIds (GRCh37): ENSG00000243989
OMIM: 104620, Gene2Phenotype
ACY1 is in 8 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Well-established inborn error of metabolism (see OMIM). Cases exhibit urinary excretion of specific N-acetyl amino acids and manifest heterogeneous clinical features including intellectual disability, motor delay, seizures, moderate to severe mental retardation, absent speech, growth delay, muscular hypotonia and autistic features.
Sources: NHS GMS
Created: 22 Jan 2021, 5:11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Aminoacylase 1 deficiency MIM#609924

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 22 Jan 2021, 5:11 a.m.

Panel version: 0.16

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Aminoacylase 1 deficiency MIM#609924
  • disorder of amino acid metabolism
OMIM
104620
Clinvar variants
Variants in ACY1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Jan 2021, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: ACY1 were changed from Aminoacylase 1 deficiency MIM#609924 to Aminoacylase 1 deficiency MIM#609924; disorder of amino acid metabolism

22 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: acy1 has been classified as Green List (High Evidence).

22 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: acy1 has been classified as Green List (High Evidence).

22 Jan 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: ACY1 was added gene: ACY1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: ACY1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACY1 were set to 16465618; 17562838; 24117009 Phenotypes for gene: ACY1 were set to Aminoacylase 1 deficiency MIM#609924 Review for gene: ACY1 was set to GREEN gene: ACY1 was marked as current diagnostic